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Record W2197792425 · doi:10.1038/ncomms8138

Genome-wide association study of colorectal cancer identifies six new susceptibility loci

2015· review· en· W2197792425 on OpenAlexaff
Fredrick R. Schumacher, Stephanie L. Schmit, Shuo Jiao, Christopher K. Edlund, Hansong Wang, Ben Zhang, Li Hsu, Shu-Chen Huang, Christopher P. Fischer, John F. Harju, Gregory Idos, Flavio Lejbkowicz, Frank J. Manion, Kevin McDonnell, Marilena Melas, Hedy S. Rennert, Wei Shi, Duncan C. Thomas, David Van Den Berg, Carolyn M. Hutter, Aaron K. Aragaki, Katja Butterbach, Bette J. Caan, Christopher S. Carlson, Stephen J. Chanock, Keith R. Curtis, Charles S. Fuchs, Manish Gala, Edward L. Giovannucci, Stephanie M. Gogarten, Richard B. Hayes, Brian E. Henderson, David J. Hunter, Rebecca D. Jackson, Laurence N. Kolonel, Charles Kooperberg, Sébastien Küry, Andrea Z. LaCroix, Cathy C. Laurie, Cecelia Laurie, Mathieu Lemire, David Levine, Jing Ma, Karen W. Makar, Conghui Qu, Darin Taverna, Cornelia M. Ulrich, Kana Wu, Suminori Kono, Dee W. West, Sonja I. Berndt, Stéphane Bezieau, Hermann Brenner, Peter T. Campbell, Andrew T. Chan, Jenny Chang‐Claude, Gerhard A. Coetzee, David V. Conti, David Duggan, Jane C. Figueiredo, Barbara K. Fortini, Steven Gallinger, W. James Gauderman, Graham G. Giles, Roger Green, Robert W. Haile, Tabitha A. Harrison, Michael Hoffmeister, John L. Hopper, Thomas J. Hudson, Eric J. Jacobs, Motoki Iwasaki, Sun Ha Jee, Mark A. Jenkins, Wei-Hua Jia, Amit D. Joshi, Li Li, Noralene M. Lindor, Keitaro Matsuo, Vı́ctor Moreno, Bhramar Mukherjee, Polly A. Newcomb, John D. Potter, Leon Raskin, Gad Rennert, Stephanie A. Rosse, Gianluca Severi, Robert E. Schoen, Daniela Seminara, Xiao‐Ou Shu, Martha L. Slattery, Shoichiro Tsugane, Emily White, Yong-Bing Xiang, Brent W. Zanke, Wei Zheng, Loı̈c Le Marchand, Graham Casey, Stephen B. Gruber, Ulrike Peters

Bibliographic record

VenueNature Communications · 2015
Typereview
Languageen
FieldMedicine
TopicGenetic factors in colorectal cancer
Canadian institutionsUniversity of OttawaOttawa HospitalMemorial University of NewfoundlandMount Sinai HospitalOntario Institute for Cancer Research
FundersNational Institute of Environmental Health SciencesNational Cancer InstituteNational Institutes of HealthNational Human Genome Research InstituteDivision of Cancer Prevention, National Cancer InstituteState of Connecticut Department of Public Health
KeywordsColorectal cancerGenome-wide association studyGeneticsBiologyGenetic predispositionGenetic associationGenomeGenetic epidemiologyCancerSingle-nucleotide polymorphismGenotypeGene

Abstract

fetched live from OpenAlex

Genetic susceptibility to colorectal cancer is caused by rare pathogenic mutations and common genetic variants that contribute to familial risk. Here we report the results of a two-stage association study with 18,299 cases of colorectal cancer and 19,656 controls, with follow-up of the most statistically significant genetic loci in 4,725 cases and 9,969 controls from two Asian consortia. We describe six new susceptibility loci reaching a genome-wide threshold of P<5.0E-08. These findings provide additional insight into the underlying biological mechanisms of colorectal cancer and demonstrate the scientific value of large consortia-based genetic epidemiology studies.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.001
metaresearch head score (Gemma)0.003
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow), Research integrity
Consensus categoriesResearch integrity
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.746
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.003
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0020.000
Bibliometrics0.0000.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0020.001
Research integrity0.0010.003
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.075
GPT teacher head0.408
Teacher spread0.332 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; both teacher heads agree on what is shown here.

Study designNot applicable
Domainnot available
GenreReview

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations174
Published2015
Admission routes1
Has abstractyes

Explore more

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